Incidental Mutation 'R8896:Ccdc88b'
| ID |
678067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc88b
|
| Ensembl Gene |
ENSMUSG00000047810 |
| Gene Name |
coiled-coil domain containing 88B |
| Synonyms |
2610041P08Rik |
| MMRRC Submission |
068698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8896 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6821991-6835579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 6831203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 580
(A580T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113440]
|
| AlphaFold |
Q4QRL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113440
AA Change: A580T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109067
Gene: ENSMUSG00000047810
AA Change: A580T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
50 |
N/A |
INTRINSIC |
|
Pfam:HOOK
|
91 |
503 |
1.2e-16 |
PFAM |
|
coiled coil region
|
731 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1429 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (73/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null ENU-induced allele exhibit decreased susceptibility to P. berghei infection with reduced T cell proliferation, decreased cytokine secretion and increased myeloid cell number. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
G |
1: 58,291,233 (GRCm39) |
S784A |
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,552,425 (GRCm39) |
H581L |
probably benign |
Het |
| Atp11a |
T |
C |
8: 12,899,781 (GRCm39) |
Y915H |
probably damaging |
Het |
| Atp4b |
T |
C |
8: 13,437,514 (GRCm39) |
D213G |
probably benign |
Het |
| Bcl11a |
A |
G |
11: 24,113,640 (GRCm39) |
S328G |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
A |
6: 23,410,876 (GRCm39) |
Y685F |
probably damaging |
Het |
| Cdc42bpa |
GACAACA |
GACA |
1: 179,958,373 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,408,155 (GRCm39) |
V1396D |
possibly damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,254 (GRCm39) |
I404V |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,851,581 (GRCm39) |
M137K |
possibly damaging |
Het |
| Cyp2d40 |
T |
C |
15: 82,644,454 (GRCm39) |
Y257C |
unknown |
Het |
| Dennd1c |
T |
A |
17: 57,381,512 (GRCm39) |
D116V |
probably damaging |
Het |
| Dph2 |
G |
A |
4: 117,747,575 (GRCm39) |
R270* |
probably null |
Het |
| Dpp8 |
A |
C |
9: 64,985,318 (GRCm39) |
H792P |
possibly damaging |
Het |
| Dusp29 |
T |
C |
14: 21,736,763 (GRCm39) |
D113G |
probably benign |
Het |
| Efs |
T |
C |
14: 55,157,756 (GRCm39) |
E185G |
possibly damaging |
Het |
| Eml3 |
A |
G |
19: 8,914,056 (GRCm39) |
E480G |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,583,828 (GRCm39) |
T336A |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,783,852 (GRCm39) |
|
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,955 (GRCm39) |
V560D |
probably damaging |
Het |
| Gbp2b |
C |
A |
3: 142,309,327 (GRCm39) |
T146K |
probably damaging |
Het |
| Gbp5 |
C |
T |
3: 142,211,308 (GRCm39) |
T346I |
probably damaging |
Het |
| Glrx |
G |
T |
13: 75,995,317 (GRCm39) |
C79F |
probably damaging |
Het |
| Glt8d2 |
T |
A |
10: 82,490,616 (GRCm39) |
T225S |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,562,483 (GRCm39) |
F456L |
possibly damaging |
Het |
| Gse1 |
T |
G |
8: 121,303,185 (GRCm39) |
S1109A |
unknown |
Het |
| Gstp3 |
A |
T |
19: 4,108,573 (GRCm39) |
L63Q |
probably damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,239 (GRCm39) |
R267W |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,147,286 (GRCm39) |
I801N |
possibly damaging |
Het |
| Ido1 |
G |
T |
8: 25,077,880 (GRCm39) |
D153E |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcnj9 |
T |
A |
1: 172,153,360 (GRCm39) |
S255C |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,629,294 (GRCm39) |
N39D |
probably benign |
Het |
| Krt39 |
A |
T |
11: 99,409,095 (GRCm39) |
S269T |
probably damaging |
Het |
| Lfng |
G |
A |
5: 140,598,978 (GRCm39) |
V296I |
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,585,132 (GRCm39) |
I209F |
probably damaging |
Het |
| Map4k5 |
T |
A |
12: 69,870,275 (GRCm39) |
D523V |
possibly damaging |
Het |
| Mdn1 |
C |
T |
4: 32,678,328 (GRCm39) |
P652L |
probably benign |
Het |
| Med30 |
G |
A |
15: 52,584,516 (GRCm39) |
V145I |
possibly damaging |
Het |
| Megf6 |
T |
A |
4: 154,326,860 (GRCm39) |
D163E |
probably damaging |
Het |
| Meltf |
T |
A |
16: 31,709,522 (GRCm39) |
|
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mppe1 |
T |
C |
18: 67,370,472 (GRCm39) |
D75G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,754,673 (GRCm38) |
P1516S |
probably benign |
Het |
| Myo3b |
C |
A |
2: 70,069,160 (GRCm39) |
F494L |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,298,688 (GRCm39) |
T226A |
probably benign |
Het |
| Nod1 |
A |
G |
6: 54,921,277 (GRCm39) |
V347A |
probably benign |
Het |
| Nup210 |
A |
T |
6: 91,019,235 (GRCm39) |
|
probably null |
Het |
| Nup210l |
A |
G |
3: 90,025,932 (GRCm39) |
R185G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,210,829 (GRCm39) |
L445S |
probably damaging |
Het |
| Or13p10 |
A |
T |
4: 118,523,502 (GRCm39) |
M263L |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,452 (GRCm39) |
M136K |
probably damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,770 (GRCm39) |
L82P |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,677 (GRCm38) |
F31I |
probably benign |
Het |
| Pdcd5 |
A |
T |
7: 35,346,795 (GRCm39) |
M1K |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,740,615 (GRCm39) |
T2161A |
possibly damaging |
Het |
| Pla2g3 |
A |
T |
11: 3,442,151 (GRCm39) |
S404C |
probably null |
Het |
| Plec |
A |
G |
15: 76,078,560 (GRCm39) |
V60A |
unknown |
Het |
| Prpsap2 |
A |
G |
11: 61,643,736 (GRCm39) |
S66P |
possibly damaging |
Het |
| Rarb |
A |
G |
14: 16,436,804 (GRCm38) |
L239P |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,583,395 (GRCm39) |
Y2845* |
probably null |
Het |
| Spta1 |
T |
C |
1: 174,045,548 (GRCm39) |
C1569R |
probably damaging |
Het |
| Stard13 |
G |
A |
5: 150,986,115 (GRCm39) |
S465L |
probably damaging |
Het |
| Tmub1 |
A |
T |
5: 24,651,680 (GRCm39) |
S80T |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,647,847 (GRCm39) |
F322S |
probably damaging |
Het |
| Vmn2r5 |
G |
A |
3: 64,411,203 (GRCm39) |
A455V |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,882 (GRCm39) |
N459K |
probably damaging |
Het |
| Wdr11 |
C |
T |
7: 129,207,437 (GRCm39) |
R300* |
probably null |
Het |
| Zer1 |
A |
G |
2: 29,993,430 (GRCm39) |
F559L |
probably damaging |
Het |
| Zfat |
A |
T |
15: 68,052,519 (GRCm39) |
V425D |
probably damaging |
Het |
| Zfp738 |
G |
A |
13: 67,817,910 (GRCm39) |
L694F |
|
Het |
| Zfp839 |
C |
T |
12: 110,835,277 (GRCm39) |
A844V |
probably damaging |
Het |
|
| Other mutations in Ccdc88b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Ccdc88b
|
APN |
19 |
6,822,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Ccdc88b
|
APN |
19 |
6,824,078 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02201:Ccdc88b
|
APN |
19 |
6,823,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02260:Ccdc88b
|
APN |
19 |
6,832,717 (GRCm39) |
splice site |
probably benign |
|
|
IGL02276:Ccdc88b
|
APN |
19 |
6,833,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02412:Ccdc88b
|
APN |
19 |
6,824,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Ccdc88b
|
APN |
19 |
6,834,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02990:Ccdc88b
|
APN |
19 |
6,824,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0031:Ccdc88b
|
UTSW |
19 |
6,831,151 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0544:Ccdc88b
|
UTSW |
19 |
6,834,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Ccdc88b
|
UTSW |
19 |
6,831,582 (GRCm39) |
missense |
probably benign |
|
|
R0920:Ccdc88b
|
UTSW |
19 |
6,824,017 (GRCm39) |
missense |
probably benign |
|
|
R0975:Ccdc88b
|
UTSW |
19 |
6,823,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Ccdc88b
|
UTSW |
19 |
6,830,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Ccdc88b
|
UTSW |
19 |
6,827,739 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1471:Ccdc88b
|
UTSW |
19 |
6,831,391 (GRCm39) |
missense |
probably benign |
|
|
R1605:Ccdc88b
|
UTSW |
19 |
6,827,837 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1752:Ccdc88b
|
UTSW |
19 |
6,830,690 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1832:Ccdc88b
|
UTSW |
19 |
6,830,900 (GRCm39) |
nonsense |
probably null |
|
|
R1839:Ccdc88b
|
UTSW |
19 |
6,831,477 (GRCm39) |
splice site |
probably benign |
|
|
R1917:Ccdc88b
|
UTSW |
19 |
6,826,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Ccdc88b
|
UTSW |
19 |
6,831,452 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4012:Ccdc88b
|
UTSW |
19 |
6,826,359 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4350:Ccdc88b
|
UTSW |
19 |
6,827,640 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4427:Ccdc88b
|
UTSW |
19 |
6,827,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4676:Ccdc88b
|
UTSW |
19 |
6,830,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4677:Ccdc88b
|
UTSW |
19 |
6,825,636 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4720:Ccdc88b
|
UTSW |
19 |
6,835,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Ccdc88b
|
UTSW |
19 |
6,834,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Ccdc88b
|
UTSW |
19 |
6,833,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Ccdc88b
|
UTSW |
19 |
6,825,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5403:Ccdc88b
|
UTSW |
19 |
6,835,108 (GRCm39) |
missense |
unknown |
|
|
R5448:Ccdc88b
|
UTSW |
19 |
6,831,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5771:Ccdc88b
|
UTSW |
19 |
6,831,203 (GRCm39) |
missense |
probably benign |
|
|
R5783:Ccdc88b
|
UTSW |
19 |
6,831,284 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5988:Ccdc88b
|
UTSW |
19 |
6,833,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Ccdc88b
|
UTSW |
19 |
6,826,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6459:Ccdc88b
|
UTSW |
19 |
6,832,246 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6773:Ccdc88b
|
UTSW |
19 |
6,826,409 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7073:Ccdc88b
|
UTSW |
19 |
6,831,330 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7707:Ccdc88b
|
UTSW |
19 |
6,834,837 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7810:Ccdc88b
|
UTSW |
19 |
6,826,454 (GRCm39) |
missense |
probably benign |
|
|
R8298:Ccdc88b
|
UTSW |
19 |
6,827,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8349:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8449:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8481:Ccdc88b
|
UTSW |
19 |
6,831,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8506:Ccdc88b
|
UTSW |
19 |
6,824,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8714:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8717:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Ccdc88b
|
UTSW |
19 |
6,825,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Ccdc88b
|
UTSW |
19 |
6,825,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8787:Ccdc88b
|
UTSW |
19 |
6,824,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9049:Ccdc88b
|
UTSW |
19 |
6,826,442 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9100:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9113:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9197:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9198:Ccdc88b
|
UTSW |
19 |
6,831,268 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9202:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Ccdc88b
|
UTSW |
19 |
6,826,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Ccdc88b
|
UTSW |
19 |
6,833,541 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9385:Ccdc88b
|
UTSW |
19 |
6,833,533 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9441:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Ccdc88b
|
UTSW |
19 |
6,833,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Ccdc88b
|
UTSW |
19 |
6,831,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Ccdc88b
|
UTSW |
19 |
6,833,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Ccdc88b
|
UTSW |
19 |
6,831,199 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Ccdc88b
|
UTSW |
19 |
6,827,108 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTACCAACTCCCCTTGG -3'
(R):5'- TGTGCCTAACAGGGATCCAG -3'
Sequencing Primer
(F):5'- TAGCAACTCCTGCACTTC -3'
(R):5'- GGATCCAGCAACTCCCTCG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation